Muscle Weakness
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Eighteen females showing a mosaic pattern of dystrophin expression on muscle biopsy were recruited and classified as symptomatic (7) or asymptomatic (11), based on the presence or absence of muscle weakness.
|
22894145 |
2012 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the DMD gene result in two common phenotypes associated with progressive muscle weakness: the more severe Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD).
|
19206170 |
2009 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD) is a genetic, lethal, muscle disorder caused by the loss of the muscle protein, dystrophin, leading to progressive loss of muscle fibers and muscle weakness.
|
25975656 |
2015 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
It is speculated that overexpression of the dystrophin-related protein in regenerating muscle fibers may contribute to the slow progression of muscle weakness or atrophy.
|
8352853 |
1993 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD), caused by the absence of the protein dystrophin, is characterized as a neuromuscular disease in which muscle weakness, increased susceptibility to muscle injury, and inadequate repair appear to underlie the pathology.
|
29067656 |
2018 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The almost complete loss of dystrophin isoform Dp427 causes a multi-system pathology that features in addition to skeletal muscle weakness also late-onset cardio-respiratory deficiencies, impaired metabolism and abnormalities in the central nervous system.
|
31359811 |
2019 |
Muscle Weakness
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
This case suggests that very low levels of DMD exon skipping and dystrophin protein expression may result in amelioration of skeletal muscle weakness, a finding relevant to current dystrophin-restoring therapies.
|
29305136 |
2018 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD) affects 1:3500-1:5000 male births, and is caused by X-linked mutations in the dystrophin gene, manifested by progressive muscle weakness and wasting due to the absence of dystrophin protein, leading to degeneration of skeletal muscle.
|
29067667 |
2018 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD) is caused by dystrophin deficiency resulting in progressive muscle weakness and fibrotic scarring.
|
28469083 |
2017 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Abnormalities of dystrophin are a common cause of muscular dystrophy and testing for dystrophin gene or protein has become a part of routine diagnostic evaluation of patients who present with progressive proximal muscle weakness, high serum creatine kinase concentrations, and histopathological evidence of a dystrophic process.
|
11303236 |
2001 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle.
|
26457695 |
2015 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The absence of dystrophin protein leads to progressive muscle weakness and wasting, disability and death.
|
23784375 |
2013 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
This technology has been tested in paralysed patients, such as those with cervical spinal cord injuries or amyotrophic lateral sclerosis, but it has not been tested systematically in Duchenne muscular dystrophy (DMD), which is a severe type of muscular dystrophy due to the loss of dystrophin and is often accompanied by progressive muscle weakness and wasting.
|
29379140 |
2018 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness.
|
9470882 |
1997 |
Muscle Weakness
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
The loss of dystrophin expression is not limited to muscle weakness but has multiple systemic consequences.
|
30206270 |
2018 |
Muscle Weakness
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
We found that dystrophin levels comprised between 29% and 57% were sufficient to avoid muscle weakness in these XLDC families.
|
17826093 |
2007 |
Muscle Weakness
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
We report three cases who presented with only mild or no muscle weakness but had elevated serum creatine kinase activity and dystrophin immunolabelling indistinguishable from normal, making a pathological diagnosis difficult.
|
15488030 |
2004 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We report here a case of dystrophinopathy in a 9-years-old boy with a 2-bp deletion in exon 74 of the dystrophin gene; however, the boy had no clear clinical signs of muscle weakness.
|
18430534 |
2009 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by DMD gene mutations leading to absence of the full-length dystrophin protein in muscle.
|
25043804 |
2014 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles.
|
29847600 |
2018 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Complete loss of muscle dystrophin protein causes progressive muscle weakness and heart and respiratory failure, leading to premature death.
|
23521559 |
2013 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
An apparently identical deletion in one family gave classical BMD in two brothers (presenting in their teens) and only very mild muscle weakness in their 86-year-old great-great-uncle.
|
2821406 |
1987 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
For the last 20 years, the major goal in the development of therapeutic approaches to alleviate muscle weakness in DMD has been centered on the restoration of dystrophin or proteins that are analogous to dystrophin, such as utrophin, through a variety of modalities including cell therapy, gene therapy, gene correction, and the highly promising techniques utilizing CRISPR/Cas9 technology.
|
27071500 |
2016 |
Muscle Weakness
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
DMD is a devastating inherited X-linked muscle disease characterized by progressive muscle weakness due to lack of dystrophin expression in muscle fiber sarcolemma.<sup>1</sup> Although the transplantation of normal myoblasts into dystrophin-deficient muscle can restore dystrophin, this approach has been hindered by limited survival (less than 1%) of the injected cells.<sup>1</sup> The fact that 99% of the cells were not surviving implantation was seen as a major weakness with this technology by most.
|
29786150 |
2019 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated.
|
16380627 |
2005 |